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Encephalopathy

glycine encephalopathy is the second most common disorder amino acid metabolism. The disease is caused by defects in the glycine cleavage system, responsible for glycine catabolism. There are several forms of the disease, with varying severity of symptoms and time of onset. The symptoms are exclusively neurological in nature, and clinically this disorder is characterized by abnormally high levels of the amino acid glycine in bodily fluids and tissues, especially the cerebrospinal fluid. Glycine encephalopathy is sometimes referred to as  nonketotic hyperglycinemia (NKH), as a reference to the biochemical findings seen in patients with the disorder, and to distinguish it from the disorders that cause ketotic hyperglycinemia (seen in propionic acidemia and several other inherited metabolic disorders). To avoid confusion, the term "glycine encephalopathy" is often used, as this term more accurately describes the clinical symptoms of the disorder. It typically presents as a severe encephalopathy with myoclonic seizures, is rapidly progressive and eventually results in respiratory arrest. Standard evaluation for inborn errors of metabolism and other causes of this presentation does not reveal any abnormality (no acidosis, no hypoglycaemia, or hyperammonaemia and no other organ affected). Pronounced and sustained hiccups in an encephalopathic infant have been described as a typical observation in non-ketotic hyperglycinaemia.Citations are important for a journal to get impact factor. Impact factor is a measure reflecting the average number of citations to recent articles published in the journal. The impact of the journal is influenced by impact factor, the journals with high impact factor are considered more important than those with lower ones. This information can be published in our peer reviewed journal with impact factors and are calculated using citations not only from research articles but also review articles (which tend to receive more citations), editorials, letters, meeting abstracts, short communications, and case reports

Last Updated on: Jul 03, 2024

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